610832.2

Country

United Arab Emirates

HPO Terms

Specific learning disability; Global developmental delay; Abnormal facial shape; Hypopigmented macule; Cafe-au-lait spot; Short stature
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024675.4:c.3350+4A>G2
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